Case Author(s): Zhiyun Yang, M.D. and Henry Royal, M.D. , 03/16/05 . Rating: #D3, #Q3

Diagnosis: Alagille Syndrome

Brief history:

7-week-old girl with elevated bilirubin and transaminase levels.


Hepatobiliary scintigraphy on 04/15/04

View main image(hs) in a separate image viewer

View second image(hs). 19 hours delayed image on 04/15/05

View third image(hs). Repeat hepatobiliary scintigraphy on 04/21/04

View fourth image(hs). 24 hours delayed image on 04/21/05

Full history/Diagnosis is available below

Diagnosis: Alagille Syndrome

Full history:

7-week-old girl with elevated bilirubin and transaminase levels.


Tc-99m mebrofenin i.v.


Hepatobiliary scintigraphy on 04/15/04: Images through 60 minutes do not demonstrate excreted activity into the bowel. Delayed images at 19 hours demonstrate an increased amount of background soft tissue activity over that normally seen, suggesting decreased hepatic uptake of the tracer. No definite excretion of bowel activity is identified. Overall decreased uptake of the radiotracer by the liver, a finding which can be seen in the setting of hepatic dysfunction such as that associated with hepatitis. If clinically useful, a repeat examination could be performed with phenobarbital pre-treatment. No definite bowel activity identified, a finding consistent with biliary atresia.

Repeat hepatobiliary scintigraphy on 04/21/04 after the patient has been pre-medicated with Ursodiol prior to the examination demonstrated that mild delay in clearance of tracer from the blood pool is noted. On the 4-hour delayed images, some activity is seen within the bowel(not shown). This is confirmed on the 24-hour delayed images with tracer conforming to the distribution of the colon. Patent biliary system.


Alagille syndrome: Autosomal dominant disorder (OMIM 118450), rare, inherited disorder associated with abnormalities of the liver, heart, skeleton, eye, kidneys, and characteristic facial appearance. Fewer than normal bile ducts in the liver.

Symptoms: Reduced bile flow - jaundice, itching and cholesterol deposits in the skin. Heart murmur (85%). Bone defects. Kidney problems or kidney failure. Distinct physical features, such as a broad forehead, straight nose, deep set eyes, a small, pointed chin, and fingers that are shorter than normal.

Posterior embryotoxon, an abnormality of the eye, was found, which can be associated with Alagille syndrome and is present in 93% of patients with Alagille, but it can be present in the normal population as well (10%).

Diagnosis is based on either tests or a physical examination. A liver biopsy- no enough bile ducts in the liver.

There is no curable treatment for Alagille syndrome. Treatments are preventing complications. Liver transplantation is for a small percentage of cirrhosis. Long-term prognosis: A typical course of liver disease -worsening cholestasis (decreasing bile flow) for several years, and then some improvement after that time. A better outcome than children with other liver disorders at the same age. Many adults with alagille syndrome lead normal lives.

Biliary atresia: inflammation develops within the bile ducts around the time of birth. The inflammation can occur in any of the bile ducts both inside and outside of the liver. In the most common form, called extrahepatic biliary atresia, the delicate ducts outside the liver are affected first. If surgery before the baby is 2 months old, success is much more likely. After 3 months, success of the operation is poor. For this reason, all infants who are jaundiced after the age of 4 weeks should be evaluated for biliary atresia.

Ursodeoxycholic acid = “ursodiol ”: Bile acids produced by the Chinese black bear and it has been used in the treatment of liver disease for centuries. Nowadays, it is produced in the laboratory. Uses: Dissolve gallstones in patients who do not want surgery; Prevent the formation of gallstones; Removal of Toxic Bile Acids; Increased bile flow

Phenobarbital Role: phenobarbital stimulates the activity of glucuroyl transferase and the synthesis of Y and Z carrier proteins and therefore increases uptake and conjugation of bilirubin. A 3-7 days course of phenobarbital therapy increases the sensitivity of HIDA scan in differentiating between biliary atresia and other causes of neonatal cholestasis

Ursodiol can be used instead of Phenobarbitol because of fewer side effect. Both medications produce same function for HIDA study though not same mechanism.


Liver, needle biopsy: Cholestasis with portal tract inflammation and minimal giant cell transformation. Decreased numbers of interlobular bile ducts.Hemosiderin deposition.

Posterior embryotoxon was found in this patient. In this patient, together with the cholestatic liver disease, the diagnosis of Alagille syndrome is likely.

Differential Diagnosis List

Differential diagnoses of delayed visualization of GI tract on hepatobiliary imaging:

Common: Cholangitis, Cholecystokinin effect, hepatocellular disease, imflammatory conditions, partial obstruction, liver transplant rejection

Uncommon: Alagille syndrome, Drugs effect (atropine, bethanecol, ketamine, narcotics), neonatal hepatitis, many infection conditions.

Reference: Silberstein EB. Diagnostic patterns in nuclear medicine. Society of NUclear Medicine. 1998; 128.

ACR Codes and Keywords:

References and General Discussion of Hepatobiliary Scintigraphy (Anatomic field:Gasterointestinal System, Category:Normal, Technique, Congenital Anomaly)

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Case number: hs021

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